Related Conditions

Testing & Diagnosis for Phenylketonuria (PKU) in Children

Contact the Metabolism Program

Newborn screening for PKU is required in all 50 states of the United States. This is because treatment needs to begin within the first weeks of life in order for the child to live a full life. A baby that tests positive for PKU by newborn screening may be referred to Children’s by their primary care doctor. At the hospital, blood and urine tests will be conducted to determine the exact type of PKU and the treatment needed.

Analyzes the levels of amino acids, including phenylalanine and tyrosine.

High levels of phenylalanine indicate PKU.

A urine specimen is collected by applying a special collection bag to the baby’s bottom.

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